title: Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies.
abstract: Three patients with mitochondrial myopathies and progressive external ophthalmoplegia had repeated episodes of respiratory failure requiring assisted ventilation. Studies in these patients and asymptomatic family members, as well as a sporadic case of Kearns-Sayre syndrome, demonstrated markedly depressed ventilatory drive responses to hypoxia. In 2 patients, there was also decreased drive to hypercapnia. The reduced ventilatory drive appears to be due to an altered neural control system that may cause episodic life-threatening hypoventilation occurring especially in relation to surgery, sedation, or intercurrent infection.
authors.affiliation: Department of Neurology, Ohio State University College of Medicine, Columbus 43210.
authors.forename: R J
authors.initials: RJ
authors.lastname: Barohn
authors.forename: T
authors.initials: T
authors.lastname: Clanton
authors.forename: Z
authors.initials: Z
authors.lastname: Sahenk
authors.forename: J R
authors.initials: JR
authors.lastname: Mendell
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle; D009135:Muscular Diseases / Q000503:physiopathology*; D009886:Ophthalmoplegia / Q000503:physiopathology*; D012008:Recurrence; D012121:Respiration, Artificial / Q000379:methods; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000503:physiopathology*